ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.6177A>G (p.Gln2059=)

dbSNP: rs775267316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003596685 SCV001669346 likely benign FG syndrome 2018-09-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354749 SCV002654548 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-07-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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